UNC119B

Summary

UNC119B (unc-119 lipid binding chaperone B, HGNC:16488) is a protein-coding gene on chromosome 12q24.31, encoding Protein unc-119 homolog B (A6NIH7). Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization.

Enables lipid binding activity. Involved in cilium assembly and lipoprotein transport. Located in ciliary transition zone.

Source: NCBI Gene 84747 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001080533

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16488
Approved symbol	UNC119B
Name	unc-119 lipid binding chaperone B
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	MGC5139, POC7B
Ensembl gene	ENSG00000175970
Ensembl biotype	protein_coding
OMIM	620513
Entrez	84747

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 nonsense_mediated_decay, 3 protein_coding, 1 retained_intron

ENST00000344651, ENST00000539658, ENST00000618898, ENST00000718081, ENST00000718082, ENST00000718083, ENST00000718084, ENST00000953441

RefSeq mRNA: 1 — MANE Select: NM_001080533 NM_001080533

CCDS: CCDS31914

Canonical transcript exons

ENST00000344651 — 5 exons

Exon	Start	End
ENSE00001369996	120716628	120716739
ENSE00001383176	120716870	120717042
ENSE00002249997	120710458	120710718
ENSE00003692746	120713274	120713387
ENSE00004034067	120719920	120723640

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.4529 / max 197.7089, expressed in 1815 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128380	29.2073	1814
128381	1.2456	910

Top tissues by expression

134 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	93.38	gold quality
right uterine tube	UBERON:0001302	93.02	gold quality
islet of Langerhans	UBERON:0000006	92.45	gold quality
right adrenal gland	UBERON:0001233	92.36	gold quality
left adrenal gland	UBERON:0001234	92.08	gold quality
right adrenal gland cortex	UBERON:0035827	91.91	gold quality
left adrenal gland cortex	UBERON:0035825	91.69	gold quality
fallopian tube	UBERON:0003889	91.37	gold quality
adrenal gland	UBERON:0002369	90.91	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.70	gold quality
adult mammalian kidney	UBERON:0000082	90.17	gold quality
pituitary gland	UBERON:0000007	89.71	gold quality
adenohypophysis	UBERON:0002196	89.71	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.07	gold quality
right lobe of thyroid gland	UBERON:0001119	89.01	gold quality
left lobe of thyroid gland	UBERON:0001120	88.80	gold quality
thyroid gland	UBERON:0002046	88.65	gold quality
ganglionic eminence	UBERON:0004023	88.63	gold quality
kidney	UBERON:0002113	88.62	gold quality
ovary	UBERON:0000992	88.61	gold quality
left ovary	UBERON:0002119	88.49	gold quality
pancreas	UBERON:0001264	88.47	gold quality
stromal cell of endometrium	CL:0002255	88.28	gold quality
metanephros cortex	UBERON:0010533	88.01	gold quality
smooth muscle tissue	UBERON:0001135	87.87	gold quality
body of uterus	UBERON:0009853	87.83	gold quality
cortex of kidney	UBERON:0001225	87.70	gold quality
right ovary	UBERON:0002118	87.62	gold quality
myometrium	UBERON:0001296	87.47	gold quality
hypothalamus	UBERON:0001898	87.32	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.86
E-MTAB-2983	no	473.72
E-MTAB-6379	no	59.83

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

129 targeting UNC119B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-1297	99.91	73.41	3162

Literature-anchored findings (GeneRIF, showing 1)

• Integrated analysis of histone lysine lactylation (Kla)-specific genes suggests that NR6A1, OSBP2 and UNC119B are novel therapeutic targets for hepatocellular carcinoma. (PMID:37903971)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	unc119b	ENSDARG00000009629
mus_musculus	Unc119b	ENSMUSG00000046562
rattus_norvegicus	Mlec	ENSRNOG00000021725
drosophila_melanogaster	unc-119	FBGN0025549
caenorhabditis_elegans		WBGENE00006843

Paralogs (1): UNC119 (ENSG00000109103)

Protein

Protein identifiers

Protein unc-119 homolog B — A6NIH7 (reviewed: A6NIH7)

All UniProt accessions (1): A6NIH7

UniProt curated annotations — full annotation on UniProt →

Function. Myristoyl-binding protein that acts as a cargo adapter: specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated NPHP3 and plays a key role in localization of NPHP3 to the primary cilium membrane. Does not bind all myristoylated proteins. Probably plays a role in trafficking proteins in photoreceptor cells.

Subunit / interactions. Found in a complex with ARL3, RP2 and UNC119B; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119B. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with MACIR; interaction only takes place when UNC119B is not liganded with myristoylated proteins.

Subcellular location. Cell projection. Cilium.

Domain organisation. Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that capture N-terminally myristoylated target peptides. Phe residues within the hydrophobic beta sandwich are required for myristate binding.

Similarity. Belongs to the PDE6D/unc-119 family.

RefSeq proteins (1): NP_001074002* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008015	PDED_dom	Domain
IPR014756	Ig_E-set	Homologous_superfamily
IPR037036	PDED_dom_sf	Homologous_superfamily
IPR051519	PDE6D_unc-119_myristoyl-bd	Family

Pfam: PF05351

UniProt features (23 total): strand 9, helix 4, mutagenesis site 3, modified residue 2, initiator methionine 1, chain 1, turn 1, region of interest 1, binding site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7OK6	X-RAY DIFFRACTION	1.95
7OK7	X-RAY DIFFRACTION	3.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NIH7-F1	81.77	0.71

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 142

Post-translational modifications (2): 2, 24

Mutagenesis-validated functional residues (3):

Position	Phenotype
144	reduced binding to myristoylated proteins; when associated with a-148 and a-207.
148	reduced binding to myristoylated proteins; when associated with a-144 and a-207.
207	reduced binding to myristoylated proteins; when associated with a-144 and a-148.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5624138	Trafficking of myristoylated proteins to the cilium

MSigDB gene sets: 198 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, AMIT_EGF_RESPONSE_480_MCF10A, MODULE_379, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_LIPOPROTEIN_LOCALIZATION, FUJII_YBX1_TARGETS_DN, CAIRO_HEPATOBLASTOMA_UP, GOBP_CELL_PROJECTION_ORGANIZATION, MODULE_242, MCCLUNG_COCAIN_REWARD_4WK, MODULE_104, GOCC_MOTILE_CILIUM

GO Biological Process (5): nervous system development (GO:0007399), lipoprotein transport (GO:0042953), cilium assembly (GO:0060271), protein transport (GO:0015031), cell projection organization (GO:0030030)

GO Molecular Function (2): lipid binding (GO:0008289), protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), cilium (GO:0005929), ciliary transition zone (GO:0035869), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cargo trafficking to the periciliary membrane	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
system development	1
protein transport	1
lipoprotein localization	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
cellular component organization	1
cytoplasm	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

1825 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UNC119B	ARL3	P36405	758
UNC119B	NPHP3	Q7Z494	745
UNC119B	PDE6D	O43924	633
UNC119B	GNAT1	P11488	620
UNC119B	CYS1	Q717R9	552
UNC119B	CCDC71	Q8IV32	549
UNC119B	ARL2	P36404	548
UNC119B	URB2	Q14146	450
UNC119B	ARL13B	Q3SXY8	447
UNC119B	SRC	P12931	436
UNC119B	CFAP36	Q96G28	435
UNC119B	FAM114A1	Q8IWE2	433
UNC119B	DNAAF19	Q8IW40	388
UNC119B	GRB2	P29354	373
UNC119B	N4BP3	O15049	325

IntAct

53 interactions, top by confidence:

A	B	Type	Score
ARL3	UNC119B	psi-mi:“MI:0914”(association)	0.730
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
NPHP3	UNC119B	psi-mi:“MI:0914”(association)	0.590
UNC119B	NPHP3	psi-mi:“MI:0407”(direct interaction)	0.590
PSKH2	UNC119B	psi-mi:“MI:0914”(association)	0.530
AVPI1	UNC119B	psi-mi:“MI:0914”(association)	0.530
PALD1	UNC119B	psi-mi:“MI:0914”(association)	0.530
LZTS2	UNC119B	psi-mi:“MI:0914”(association)	0.530
STK16	UNC119B	psi-mi:“MI:0914”(association)	0.530
GNAT1	UNC119B	psi-mi:“MI:0407”(direct interaction)	0.440
ZFC3H1	UNC119B	psi-mi:“MI:0914”(association)	0.350
PAPD5	UNC119B	psi-mi:“MI:0914”(association)	0.350
ARL3		psi-mi:“MI:0914”(association)	0.350
NPHP3	ARHGEF35	psi-mi:“MI:0914”(association)	0.350
RNF34	UNC119B	psi-mi:“MI:0914”(association)	0.350
RNASEL	UNC119B	psi-mi:“MI:0914”(association)	0.350
SLA2	RPSA2	psi-mi:“MI:0914”(association)	0.350

BioGRID (52): UNC119B (Affinity Capture-RNA), UNC119B (Affinity Capture-RNA), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Affinity Capture-MS), UNC119B (Proximity Label-MS), UNC119B (Affinity Capture-MS)

ESM2 similar proteins: A0A1D6HQ92, A2WSZ6, A2XX39, A2ZVY5, A6NIH7, B4FR29, B9Q0C2, F4IVL6, O60291, P04294, P04413, P49727, P68350, Q05A36, Q07820, Q0J7T6, Q0JAI1, Q2QNS6, Q2QPW2, Q3UE17, Q42840, Q53JI9, Q53K52, Q58CZ0, Q5R4R7, Q5VM82, Q5VRL3, Q6IMP4, Q6L5G1, Q6UDF4, Q6UDI9, Q6UDL6, Q6ZBS8, Q750B5, Q75CM4, Q7XDY9, Q7XLY8, Q7YRZ9, Q80TL4, Q84MH1

Diamond homologs: A6NIH7, O19177, Q10658, Q13432, Q17297, Q3SYR2, Q62885, Q66JA9, Q6INE2, Q8C4B4, Q90Z08, Q9XYQ2, Q9Z2R6, O55057, Q95142, Q9XT54, O43924

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

48 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

767 predictions. Top by Δscore:

Variant	Effect	Δscore
12:120710715:GAGA:G	donor_gain	1.0000
12:120710716:AGA:A	donor_gain	1.0000
12:120710717:GA:G	donor_gain	1.0000
12:120710717:GAG:G	donor_gain	1.0000
12:120710719:G:GG	donor_gain	1.0000
12:120713265:T:TA	acceptor_gain	1.0000
12:120713269:TTCA:T	acceptor_loss	1.0000
12:120713270:TCAG:T	acceptor_loss	1.0000
12:120713272:A:AG	acceptor_gain	1.0000
12:120713272:A:C	acceptor_loss	1.0000
12:120713273:G:GC	acceptor_gain	1.0000
12:120713273:GA:G	acceptor_gain	1.0000
12:120713273:GAT:G	acceptor_gain	1.0000
12:120713273:GATT:G	acceptor_gain	1.0000
12:120713273:GATTA:G	acceptor_gain	1.0000
12:120713350:G:T	donor_gain	1.0000
12:120713385:CAG:C	donor_loss	1.0000
12:120713386:AGG:A	donor_loss	1.0000
12:120713387:GGTA:G	donor_loss	1.0000
12:120713388:G:T	donor_loss	1.0000
12:120713389:T:G	donor_loss	1.0000
12:120716623:TTCA:T	acceptor_loss	1.0000
12:120716626:A:AG	acceptor_gain	1.0000
12:120716627:G:A	acceptor_loss	1.0000
12:120716627:G:GA	acceptor_gain	1.0000
12:120716627:GA:G	acceptor_gain	1.0000
12:120716627:GAC:G	acceptor_gain	1.0000
12:120716627:GACC:G	acceptor_gain	1.0000
12:120716733:GGGC:G	donor_gain	1.0000
12:120716734:GGC:G	donor_gain	1.0000

AlphaMissense

1651 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:120710692:T:A	V73D	1.000
12:120713280:T:C	L84S	1.000
12:120713283:G:A	C85Y	1.000
12:120713284:T:G	C85W	1.000
12:120713299:C:A	N90K	1.000
12:120713299:C:G	N90K	1.000
12:120713310:T:A	I94N	1.000
12:120713315:T:C	F96L	1.000
12:120713315:T:G	F96V	1.000
12:120713316:T:C	F96S	1.000
12:120713316:T:G	F96C	1.000
12:120713317:C:A	F96L	1.000
12:120713317:C:G	F96L	1.000
12:120713322:G:C	R98P	1.000
12:120713324:T:A	F99I	1.000
12:120713324:T:C	F99L	1.000
12:120713324:T:G	F99V	1.000
12:120713325:T:C	F99S	1.000
12:120713325:T:G	F99C	1.000
12:120713326:C:A	F99L	1.000
12:120713326:C:G	F99L	1.000
12:120713331:T:A	I101N	1.000
12:120713331:T:C	I101T	1.000
12:120713331:T:G	I101S	1.000
12:120713334:G:C	R102P	1.000
12:120713358:T:A	L110H	1.000
12:120713358:T:C	L110P	1.000
12:120713360:T:A	F111I	1.000
12:120713360:T:C	F111L	1.000
12:120713360:T:G	F111V	1.000

dbSNP variants (sampled 300 via entrez): RS1000043490 (12:120712296 A>G), RS1000254956 (12:120715500 T>A), RS1000500753 (12:120718215 T>G), RS1000614 (12:120711137 C>G,T), RS1000615 (12:120711372 C>A,T), RS1000858810 (12:120717120 G>T), RS1001006806 (12:120722776 C>G), RS1001090512 (12:120716290 T>C), RS1001530881 (12:120714293 T>C), RS1001565429 (12:120712869 AGTTGGCAAACTAAC>A), RS1001608994 (12:120713729 C>G), RS1002014842 (12:120714615 G>A), RS1002133046 (12:120720986 A>G), RS1003237251 (12:120721887 G>A,T), RS1003493853 (12:120712190 T>G)

Disease associations

OMIM: gene MIM:620513 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST004602_163	Mean corpuscular volume	6.000000e-45
GCST004630_188	Mean corpuscular hemoglobin	3.000000e-39
GCST006249_30	Serum metabolite levels	4.000000e-177
GCST006804_116	Red cell distribution width	7.000000e-17
GCST012020_372	Serum metabolite levels	1.000000e-31
GCST012353_6	Serum metabolite concentrations in chronic kidney disease	5.000000e-14
GCST90002390_74	Mean corpuscular hemoglobin	9.000000e-119
GCST90002392_394	Mean corpuscular volume	4.000000e-154
GCST90002396_538	Mean reticulocyte volume	6.000000e-139
GCST90002397_219	Mean spheric corpuscular volume	9.000000e-116
GCST90002403_461	Red blood cell count	8.000000e-63
GCST90002404_146	Red cell distribution width	2.000000e-41

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin
EFO:0009188	Red cell distribution width
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
clothianidin	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	decreases expression	1
Cadmium	increases abundance, increases expression	1
Diuron	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Thiram	decreases expression	1
Valproic Acid	affects expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases abundance, increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.